"Wessex Regional Genetics Laboratory, Salisbury District Hospital"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3474	NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	ELP4, PAX6 (K387* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	Congenital ocular coloboma +8 more	GConflicting classifications of pathogenicity
Select item 800482	NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln)	ELP4, PAX6	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 800480	NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs)	ELP4, PAX6 (W365fs +8 more)	Indel (nonsense +3 more)	Aniridia 1	GPathogenic
Select item 800481	NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs)	ELP4, PAX6 (G368fs +13 more)	Deletion (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800479	NM_001368894.2(PAX6):c.1282dup (p.Met428fs)	ELP4, PAX6 (C364fs +13 more)	Duplication (frameshift variant +2 more)	Aniridia 1	GPathogenic
Select item 800478	NM_001368894.2(PAX6):c.1226-1G>C	ELP4, PAX6	Single nucleotide variant (splice acceptor variant +1 more)	Aniridia 1	GPathogenic
Select item 372441	NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)	ELP4, PAX6 (R208W +9 more)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia 1 +4 more	GPathogenic/Likely pathogenic

ClinVar